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Genomic Approaches For the Discovery of Genes Mutated in Inherited Retinal Degeneration

In view of their high degree of genetic heterogeneity, inherited retinal diseases (IRDs) pose a significant challenge for identifying novel genetic causes. Thus far, more than 200 genes have been found to be mutated in IRDs, which together contain causal variants in >80% of the cases. Accurate ge...

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Bibliografiska uppgifter
Huvudupphovsmän: Siemiatkowska, Anna M., Collin, Rob W.J., den Hollander, Anneke I., Cremers, Frans P.M.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Cold Spring Harbor Laboratory Press 2014
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4109577/
https://ncbi.nlm.nih.gov/pubmed/24939053
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/cshperspect.a017137
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